Cohort study of hereditary stomatocytosis and related red blood cell disorders
National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
Assistance Publique - Hôpitaux de Paris · NCT04778657
This study is trying to gather information from people with hereditary stomatocytosis to better understand the condition and improve how it's diagnosed and treated.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris (other) |
| Locations | 1 site (Le Kremlin-Bicêtre) |
| Trial ID | NCT04778657 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a comprehensive cohort of patients diagnosed with hereditary stomatocytosis, a rare genetic condition affecting red blood cells. Patients will be prospectively included, and their clinical and biological data will be collected during routine follow-ups by their hematologists. The goal is to enhance the understanding of the disease's presentation and progression, ultimately improving diagnosis and management strategies for affected individuals.
Who should consider this trial
Good fit: Ideal candidates include any patient diagnosed with stomatocytosis, regardless of age, who is affiliated with French Social Security.
Not a fit: Patients whose stomatocytosis diagnosis has been excluded by ektacytometry or genetics may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnosis and management of hereditary stomatocytosis, improving patient outcomes.
How similar studies have performed: While there is limited data on similar cohorts, the establishment of comprehensive registries for rare diseases has shown promise in improving patient care and outcomes.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Any patient with a diagnosis of stomatocytosis without age limit * Patient affiliated or beneficiary of french Social Security * No objection from the patient or legal representative Exclusion Criteria: * Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics * Patient under guardianship, with curators or legal protection
Where this trial is running
Le Kremlin-Bicêtre
- AP-HP, Bicêtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia, Thalassemia and other constitutional diseases of the red blood cell — Le Kremlin-Bicêtre, France (RECRUITING)
Study contacts
- Principal investigator: Corinne GUITTON — APHP
- Study coordinator: Corinne GUITTON, MD,PhD
- Email: corinne.guitton@aphp.fr
- Phone: 01 45 21 32 47
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Stomatocytosis, rare genetic disease